Skip to main content

Advertisement

SpringerLink
Log in

Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA)

  • Correspondence
  • Published:
Clinical Neuroradiology Aims and scope Submit manuscript

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus. We report a 33-year-old female with a rare subtype of NBIA, called beta-propeller protein-associated neurodegeneration (BPAN) with a hitherto unknown missense variant in WDR45. She presented with BPAN’s particular biphasic course of neurological symptoms and with a dominant iron accumulation in the midbrain that enclosed a spotty T2-hyperintensity.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 2015;8:1–13.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: GeneReviews(R). Seattle: University of Washington; 2016.

    Google Scholar 

  3. Drayer BP. Magnetic resonance imaging and extrapyramidal movement disorders. Eur Neurol. 1989;29(Suppl 1):9–12.

    Article  PubMed  Google Scholar 

  4. Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 2006;59:248–56.

    Article  CAS  PubMed  Google Scholar 

  5. Guillerman RP. The eye-of-the-tiger sign. Radiology. 2000;217:895–6.

    Article  CAS  PubMed  Google Scholar 

  6. Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X‑linked dominant form of NBIA. Am J Hum Genet. 2012;91:1144–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Dall’Armi C, Devereaux KA, Di Paolo G. The role of lipids in the control of autophagy. Curr Biol. 2013;23:R33–R45.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Lu Q, Yang P, Huang X, Hu W, Guo B, Wu F, Lin L, Kovács AL, Yu L, Zhang H. TheWD40 repeat PtdIns(3)P-binding protein EPG-6 regulates progression of omegasomes to autophagosomes. Dev Cell. 2011;21:343–57.

    Article  CAS  PubMed  Google Scholar 

  9. Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P. β‑Propeller protein-associated neurodegeneration: a new X‑linked dominant disorder with brain iron accumulation. Brain. 2013;136:1708–17.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S. Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. J Neurol Sci. 2015;349:105–9.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Neuroradiology, University Hospital of Bonn, Sigmund-Freud Straße 25, 53127, Bonn, Germany

    Elke Hattingen

  2. Department of Radiology, University Hospital of Bonn, Bonn, Germany

    Nikolaus Handke & Guido Matthias Kukuk

  3. Department of Human Genetics, University Hospital of Bonn, Bonn, Germany

    Kirsten Cremer

  4. Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany

    Sabine Hoffjan

Authors
  1. Elke Hattingen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Nikolaus Handke
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Kirsten Cremer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sabine Hoffjan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Guido Matthias Kukuk
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Elke Hattingen.

Ethics declarations

Conflict of interest

E. Hattingen is a consultant for the Fraunhofer Institut Frankfurt. N. Handke, K. Cremer, S. Hoffjan and G.M. Kukuk declare that they have no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hattingen, E., Handke, N., Cremer, K. et al. Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). Clin Neuroradiol 27, 481–483 (2017). https://doi.org/10.1007/s00062-017-0605-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00062-017-0605-9

Keywords

Search

Navigation